학술논문
'학술논문'
에서 검색결과 120건 | 목록
1~10
Academic Journal
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, May 2024, 142(1))
Academic Journal
Duan, R.; Marafi, D.; Saad, A.K.; Du, H.; Fatih, J.M.; Mitani, T.; Withers, M.A.; Coban-Akdemir, Z.; Calame, D.G.; Pehlivan, D.; Gibbs, R.A.; Posey, J.E.; Lupski, J.R.; Xia, Z.-J.; Ng, B.G.; Freeze, H.H.; Maroofian, R.; Efthymiou, S.; Houlden, H.; Sumya, F.T.; Lupashin, V.V.; Hunter, J.V.; Elbendary, H.M.; Zaki, M.S.; Baig, S.M.; Abdullah, U.; Ali, Z.; Murphy, D.; Jhangiani, S.N.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2023, 46(6):1195-1205)
Academic Journal
del Caño-Ochoa, F.; Rubio-del-Campo, A.; Ramón-Maiques, S.; Ng, B.G.; Mahajan, S.; Freeze, H.H.; Wilson, M.P.; Vilar, M.; Rymen, D.; Sánchez-Pintos, P.; Kenny, J.; Ley Martos, M.; Campos, T.; Wortmann, S.B.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2023, 46(6):1170-1185)
Academic Journal
Mahajan, S.; Ng, B.G.; Sosicka, P.; Freeze, H.H.; Alabdi, L.; Patel, N.; Helaby, R.; Abdulwahab, F.; Alkuraya, F.S.; Earnest, P.D.J.; He, M.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 July 2023, 60(7):627-635)
Academic Journal
Dang Do, A.N.; Perreault, J.; Chang, I.J.; Lam, C.; Merritt, J.L.; Jiang, X.; Ory, D.S.; Wolfe, L.A.; Wolfenson, Z.; Ng, B.G.; Freeze, H.H.; Schnur, R.E.; Allis, K.; Hansikova, H.; Ondruskova, N.; O'Connor, S.D.; Sanchez-Valle, A.; Vollo, A.; Wang, R.Y.; Porter, F.D.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, March 2023, 46(2):326-334)
Academic Journal
Alharbi, H.; Daniel, E.J.P.; He, M.; Thies, J.; Chang, I.; Lam, C.; Goldner, D.L.; Ng, B.G.; Freeze, H.H.; Witters, P.; Aqul, A.; Velez-Bartolomei, F.; Enns, G.M.; Hsu, E.; Saarela, K.; Kichula, E.; Lee, E.; Lourenco, C.; Poskanzer, S.A.; Rasmussen, S.; Wang, Y.M.; Raymond, K.M.; Schultz, M.J.; Edmondson, A.C.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, March 2023, 46(2):300-312)
Book
Xia, Z.-J.; Ng, B.G.; Freeze, H.H.; Eklund, E.A.; Jennions, E.; Blomqvist, M.; Hedberg-Oldfors, C.; Gonzalez, C.R.; Sandqvist Wiklund, A.; Ygberg, S.
(JIMD Reports, January 2023, 64(1):79-89)
Academic Journal
In: Journal of Biological Chemistry . (Journal of Biological Chemistry, January 2023, 299(1))
Academic Journal
Elsharkawi, I.; Wongkittichote, P.; Starosta, R.T.; Shinawi, M.; Daniel, E.J.P.; He, M.; Ueda, K.; Ng, B.G.; Freeze, H.H.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, January 2023, 46(1):92-100)
Academic Journal
Nagy, S.; Lau, T.; Houlden, H.; Maroofian, R.; Alavi, S.; Vallian, J.; Karimiani, E.G.; Ng, B.G.; Freeze, H.H.; Noroozi Asl, S.; Akhondian, J.; Bahreini, A.; Yaghini, O.; Uapinyoying, P.; Bonnemann, C.; Dissanayake, V.H.W.; Sirisena, N.D.; Schmidts, M.; Moreno-De-Luca, A.
In: Clinical Genetics . (Clinical Genetics, December 2022, 102(6):530-536)
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[AR] Ng, B.G.
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